A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15160



Internal ID11032394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:95183112..95314999hg38UCSC Ensembl
Innerchr10:96942869..97074756hg19UCSC Ensembl
Innerchr10:96932859..97064746hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38131888
hg19131888
hg18131888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22688
Supporting Variantsessv64129, essv48250, essv41020
SamplesNA12878, NA07045, NA07037
Known GenesC10orf129, PDLIM1, SORBS1
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv15160
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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